Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib

Abstract

We present a case of a white adult female patient who suffered from chronic mucocutaneous candidiasis (CMC) since infancy. Her parents were not consanguineous, and neither of them nor any other family member, including an older sister, suffered from similar symptoms. The patient often received prolonged courses of antifungal antibiotics, but the regimens were always insufficiently effective. The differential diagnosis included atopic dermatitis or acrodermatitis enteropathica, a rare, usually genetic disorder of zinc metabolism characterized by pustular dermatitis, diarrhea, and nail dystrophy. At the age of 18, the patient was diagnosed with type 1 diabetes mellitus. Five years later, human immunoglobulin substitution was started due to immunoglobulin (Ig) G2 and IgG4 mild deficiency.